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  • golharam
    Member
    • Dec 2009
    • 55

    detection of aberrant rna transcripts

    Hi all - I have some RNA-Seq data in which I'm trying to track down any transcripts that might have been rendered non-functional by a mutation. I'm expecting a novel splice variant or a mutation somewhere that would have led to a missense codon or early stop codon or something like that. I'm currently running that data through tophat/cufflinks.

    I haven't seen much in the literature, but I could also not be searching correctly. It seems everyone is concerned about expression levels. What there any recommended tools that will detect the type of mutations I'm referring to?

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  • GATTACAT
    Reply to Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by GATTACAT
    Love this - good data definitely starts from good input, and poor input can only give relatively poor data. I particularly like the mention of Nanodrop/absorbance based methods for quantification. It's such a toss up if you'll get an accurate reading or what amounts to a randomly generated number, and a lot of library/sequencing related issues can be traced back to poor quant.
    Yesterday, 11:43 AM
  • SEQadmin2
    Nine Things a Sample Prep Scientist Thinks About Before Sequencing
    by SEQadmin2


    I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.

    Here are nine questions we think about, in roughly the order they matter, before...
    06-18-2026, 07:11 AM

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